Canonical Allele Identifier: CA346205423

Gene: MPV17

Linked Data

• dbSNP Id: rs1298271939
• gnomAD v2: 2-27532825-A-G
• gnomAD v4: 2-27309957-A-G
• MyVariant Identifiers: chr2:g.27532825A>G (hg19) ; chr2:g.27309957A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309957A>G , CM000664.2:g.27309957A>G	GRCh38
NC_000002.11:g.27532825A>G , CM000664.1:g.27532825A>G	GRCh37
NC_000002.10:g.27386329A>G	NCBI36
NG_008075.1:g.17607T>C
NG_033055.1:g.3306T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.486T>C MANE Select	ENSP00000369383.1:p.Ala162=
ENST00000233545.6:c.486T>C	ENSP00000233545.2:p.Ala162=
ENST00000357186.10:c.318T>C	ENSP00000349713.6:p.Ala106=
ENST00000380044.5:c.486T>C	ENSP00000369383.1:p.Ala162=
ENST00000402310.5:c.433T>C	ENSP00000383955.1:p.Cys145Arg
ENST00000402722.5:c.*65T>C	ENSP00000386000.1:n.*65T>C
ENST00000405076.5:c.297T>C	ENSP00000385175.1:p.Ala99=
ENST00000405983.5:c.531T>C	ENSP00000384586.1:p.Ala177=
ENST00000415514.5:c.*287T>C	ENSP00000388043.1:n.*287T>C
ENST00000426513.6:c.*151T>C	ENSP00000403824.2:n.*151T>C
ENST00000430991.5:c.320T>C
ENST00000620797.4:n.159T>C
ENST00000621183.4:n.789T>C
NM_002437.4:c.486T>C	NP_002428.1:p.Ala162=
XM_005264326.2:c.486T>C	XP_005264383.1:p.Ala162=
XM_005264327.2:c.327T>C	XP_005264384.1:p.Ala109=
XM_006712021.2:c.438T>C	XP_006712084.1:p.Ala146=
XM_005264326.4:c.486T>C	XP_005264383.1:p.Ala162=
XM_006712021.3:c.438T>C	XP_006712084.1:p.Ala146=
XM_017004150.1:c.468T>C	XP_016859639.1:p.Ala156=
XM_017004151.1:c.438T>C	XP_016859640.1:p.Ala146=
XM_017004152.1:c.327T>C	XP_016859641.1:p.Ala109=
XM_024452913.1:c.438T>C	XP_024308681.1:p.Ala146=
NM_002437.5:c.486T>C MANE Select	NP_002428.1:p.Ala162=